GFPT1

glutamine--fructose-6-phosphate transaminase 1
OMIM: 138292, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green GFPT1 in Congenital disorders of glycosylation Level 2: Metabolic Version 7.13 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Literature Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542
Red GFPT1 in Arthrogryposis Level 2: Neurology Version 9.24 Latest signed off version: v9.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Expert list Phenotypes Congenital Myasthenic Syndrome, Recessive Myasthenia, congenital, with tubular aggregates 1, 610542
Green GFPT1 in Congenital myaesthenic syndrome Level 2: Neurology Version 5.7 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Myasthenia, congenital, 12, with tubular aggregates, OMIM:610542
Red GFPT1 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Level 2: Neurology Version 5.29 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Myasthenia, congenital, 12, with tubular aggregates, 610542 Congenital myasthenic syndrome
Green GFPT1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital myasthenic sydrome (Disorders of protein N-glycosylation) Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542
Green GFPT1 in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542 Congenital myasthenic sydrome (Disorders of protein N-glycosylation)
Green GFPT1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Myasthenia, congenital, 12, with tubular aggregates, OMIM:610542 Congenital myasthenic syndrome 12, MONDO:0012518
Red GFPT1 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH